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Article

Screening of biobank SNP-array genotyping data to detect Lynch syndrome predisposing MLH1 copy number variants.

Familial cancer - 26 May 2025

Ala-Kulju Kimmo, Carpén Olli, Lappalainen Maarit, Pehrsson Minja

Abstract excerpt

Efficient use of genetic biobank data in support of clinical care would enhance the adoption of personalized medicine. Identification of carriers of medically actionable variants that predispose to cancer enables intensified screening and follow-up to decrease disease risk. Pathogenic variants of the MLH1 gene cause Lynch syndrome with a significant risk of developing cancer. Here, we introduce a novel approach...

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Identifiers

PMID: 40418428
DOI: 10.1007/s10689-025-00476-6
PMCID: PMC12106501

Genes

MLH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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